Canonical Allele Identifier: CA2336459320
Gene: BCKDHA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422863T= , CM000681.2:g.41422863T= GRCh38
NC_000019.9:g.41928768T= , CM000681.1:g.41928768T= GRCh37
NC_000019.8:g.46620608T= NCBI36
NG_013004.1:g.30075T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.995+93T= MANE Select ENSP00000269980.2:n.995+93T=
ENST00000269980.6:c.995+93T= ENSP00000269980.2:n.995+93T=
ENST00000457836.6:c.930-60T= ENSP00000416000.2:n.930-60T=
ENST00000540732.3:c.1097+93T= ENSP00000443246.1:n.1097+93T=
ENST00000542943.5:c.908+93T= ENSP00000440345.1:n.908+93T=
ENST00000595085.5:c.922+166T= ENSP00000471150.2:n.922+166T=
NM_000709.3:c.995+93T= NP_000700.1:n.995+93T=
NM_001164783.1:c.992+93T= NP_001158255.1:n.992+93T=
NM_000709.4:c.995+93T= MANE Select NP_000700.1:n.995+93T=
NM_001164783.2:c.992+93T= NP_001158255.1:n.992+93T=
Search 100 bp 5'
Search 100 bp 3'